Canonical Allele Identifier: CA516988545
Gene: EFNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.68049679G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829836G>A , CM000685.2:g.68829836G>A GRCh38
NC_000023.10:g.68049679G>A , CM000685.1:g.68049679G>A GRCh37
NC_000023.9:g.67966404G>A NCBI36
NG_008887.1:g.5840G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.60G>A MANE Select ENSP00000204961.4:p.Ala20=
ENST00000204961.4:c.60G>A ENSP00000204961.4:p.Ala20=
NM_004429.4:c.60G>A NP_004420.1:p.Ala20=
NM_004429.5:c.60G>A MANE Select NP_004420.1:p.Ala20=